Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

5.8K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
5.8K
Notch Signaling Pathway03:14

Notch Signaling Pathway

6.3K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
6.3K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

9.3K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
9.3K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.6K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.6K
Incomplete Dominance01:43

Incomplete Dominance

29.5K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
29.5K
Genetic Lingo01:11

Genetic Lingo

113.3K
Overview
113.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Transient gonadotropin suppression by exogenous testosterone decreases INSL3 in early puberty in boys with constitutional delay of growth and puberty.

Journal of the Endocrine Society·2026
Same author

Macrophage Polarization and Spatial Architecture Characterize the Tumor Immune Microenvironment and Prognosis in Hepatoblastoma.

The American journal of pathology·2026
Same author

Efficient NK cell transduction with VSV-G-pseudotyped lentiviral vectors.

Molecular therapy. Advances·2026
Same author

Regulation of lineage reprogramming by dynamic chromatin SUMOylation.

Cellular and molecular life sciences : CMLS·2026
Same author

Homozygous loss-of-function mutation in SIT1 leads to combined immunodeficiency due to dysregulated T-cell receptor signaling.

The Journal of allergy and clinical immunology·2026
Same author

An adipocyte-endothelial framework to identify molecular signatures of metabolic vulnerability in obesity.

Research square·2026
Same journal

Continuous glucose monitoring-derived time in range is associated with changes in arterial stiffness in type 2 diabetes.

The Journal of clinical endocrinology and metabolism·2026
Same journal

Association of the Primary Aldosteronism Severity Classification with Lateralization and Treatment Outcomes.

The Journal of clinical endocrinology and metabolism·2026
Same journal

From Premature Adrenarche to Adult Metabolic Risk and Hyperandrogenism: A Systematic Review and Meta-Analysis.

The Journal of clinical endocrinology and metabolism·2026
Same journal

Open-Label 9-Year Follow-Up Extension Phase 2 Study of Once-Weekly Somatrogon in Children With Growth Hormone Deficiency.

The Journal of clinical endocrinology and metabolism·2026
Same journal

Correction to: "CAHQL: A Patient-Reported Outcome Instrument to Assess Health-Related Quality of Life in Congenital Adrenal Hyperplasia".

The Journal of clinical endocrinology and metabolism·2026
Same journal

Approach to Personalizing the Treatment of Osteoporosis.

The Journal of clinical endocrinology and metabolism·2026
See all related articles

Related Experiment Video

Updated: Dec 28, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.1K

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.

Johanna Hietamäki1, Louise C Gregory2, Sandy Ayoub3

  • 1Pediatric Research Center, Helsinki University Hospital, New Children's Hospital, Pediatric Research Center, Helsinki, Finland.

The Journal of Clinical Endocrinology and Metabolism
|February 16, 2020
PubMed
Summary
This summary is machine-generated.

Genetic variants in the TBC1D32 gene cause syndromic hypopituitarism, affecting pituitary development. This disruption may involve the Sonic Hedgehog (Shh) signaling pathway, impacting brain development and hormone production.

Keywords:
Sonic Hedgehog signalingTBC1D32ciliopathyhypopituitarismretinal dystrophy

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.2K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.2K

Related Experiment Videos

Last Updated: Dec 28, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.1K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.2K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.2K

Area of Science:

  • Genetics
  • Endocrinology
  • Developmental Biology

Background:

  • Genetic hypopituitarism often presents with syndromic phenotypes, but the molecular causes remain largely unknown.
  • Identifying the genetic basis is crucial for understanding pituitary development and associated disorders.

Observation:

  • Two families with syndromic hypopituitarism, including panhypopituitarism and anterior pituitary agenesis, were studied.
  • Whole genome sequencing identified biallelic loss-of-function variants in the TBC1D32 gene in affected individuals.

Findings:

  • Patients with biallelic TBC1D32 variants exhibited hypopituitarism, anterior pituitary hypoplasia, and craniofacial/developmental abnormalities.
  • TBC1D32 expression was observed in the developing hypothalamus and Rathke's pouch, and the protein interacts with components of Sonic Hedgehog (Shh) signaling and ciliogenesis.

Implications:

  • Biallelic TBC1D32 variants are a newly identified cause of syndromic hypopituitarism.
  • Disruption of TBC1D32 function likely impairs Shh signaling, contributing to pituitary and craniofacial developmental defects.